Varaico: Literature-Extracted Genetic Variants

DNMT3A

2,446 papers

RefSeq Summary

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required...

Pfam Domains

DNM3A_Naa 1–61UCSCDNA (cytosine-5-)-methyltransferase, N-terminal

DNM3A_Naa 4–284UCSCDNA (cytosine-5-)-methyltransferase, N-terminal

PWWPaa 293–377UCSCPWWP domain

ADD_DNMT3aa 475–530UCSCDNMT3, cysteine rich ADD domain, GATA1-like zinc finger

Gene Aliases

HGNC Name

DNA methyltransferase 3 alpha

HGNC Previous Name

DNA (cytosine-5-)-methyltransferase 3 alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_022552.5

p.W330fs

c.988_989fs

Surrounding Variants

17 papers

NM_022552.5

p.W330R

c.988T>C

16 papers

NM_022552.5

p.W330R

c.988T>A

1 paper

NM_022552.5

p.M329I

c.987G>T

2 papers

NM_022552.5

p.M329fs

c.985_986fs

1 paper

NM_022552.5

p.M329I

c.987G>C

27 papers

NM_022552.5

p.W330*

c.989G>A

1 paper

NM_022552.5

p.M329I

c.987G>A

1 paper

NM_022552.5

p.M329delFs

c.986delA

2 papers

NM_022552.5

p.V328_W330delFs

c.984_988del5

1 paper

NM_022552.5

p.M329T

c.986T>C

1 paper

NM_022552.5

p.M329delFs

c.985delT

1 paper

NM_022552.5

p.R326_M329delFs

c.978_985del8